Varaico: Literature-Extracted Genetic Variants

Gene:DNAJB11
Variant:p.R24*

DNAJB11

101 papers

RefSeq Summary

This gene encodes a soluble glycoprotein of the endoplasmic reticulum (ER) lumen that functions as a co-chaperone of binding immunoglobulin protein, a 70 kilodalton heat shock protein chaperone requir...

Pfam Domains

DnaJaa 25–87UCSCDnaJ domain
DnaJ_Caa 134–327UCSCDnaJ C terminal domain

Gene Aliases

HGNC Name

DnaJ heat shock protein family (Hsp40) member B11

HGNC Alias Symbols

EDJ; HEDJ; ERdj3

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_016306.6
p.R24*
c.70C>T
Surrounding Variants
1 paper
NM_016306.6
p.R24fs
c.70_71fs
1 paper
NM_016306.6
p.R24fs
c.70_71fs
1 paper
NM_016306.6
p.R24_I29delFs
c.70_85del16
1 paper
NM_016306.6
p.K28N
c.84G>C
1 paper
NM_016306.6
p.K28N
c.84G>T
1 paper
NM_016306.6
p.G31G
c.93G>A
1 paper
NM_016306.6
p.P33S
c.97C>T
5 papers
NM_016306.6
p.R34*
c.100C>T
1 paper
NM_016306.6
p.A36V
c.107C>T
1 paper
NM_016306.6
p.I41insFs
c.123dupT
1 paper
NM_016306.6
p.K42*
c.124A>T
1 paper
NM_016306.6
p.Y45C
c.134A>G
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